ClinVar Miner

List of variants in gene combination IRF2BPL, LOC107984638 studied for Inborn genetic diseases

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_024496.4(IRF2BPL):c.160G>A (p.Ala54Thr) rs1193032232 0.00005
NM_024496.4(IRF2BPL):c.226G>A (p.Val76Ile) rs771202900 0.00004
NM_024496.4(IRF2BPL):c.5C>T (p.Ser2Leu) rs755943478 0.00002
NM_024496.4(IRF2BPL):c.199G>C (p.Gly67Arg) rs781589817
NM_024496.4(IRF2BPL):c.280G>A (p.Ala94Thr) rs1566787057
NM_024496.4(IRF2BPL):c.38C>T (p.Ser13Phe)

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